ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.582A>G (p.Ala194=)

gnomAD frequency: 0.00003  dbSNP: rs764101035
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel RCV000768361 SCV003934941 likely benign Angelman syndrome 2023-06-15 reviewed by expert panel curation The allele frequency of the c.522A>G p.Ala174= variant in UBE3A (NM_130838.2) is 0.017% in the Latino/Admixed American sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The silent p.Ala174= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). In summary, the c.522A>G p.Ala174= variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BP4, BP7).
Eurofins Ntd Llc (ga) RCV000714145 SCV000706980 uncertain significance not provided 2017-04-03 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000714145 SCV000844825 likely benign not provided 2018-05-01 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768361 SCV000899068 uncertain significance Angelman syndrome 2021-03-30 criteria provided, single submitter clinical testing UBE3A NM_130838.1 exon 3 p.Ala174= (c.522A>G): This variant has not been reported in the literature but is present in 4/34418 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs764101035). This variant is present in ClinVar (Variation ID:500854). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV000768361 SCV003789794 likely benign Angelman syndrome 2024-12-04 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004586821 SCV005077689 likely benign not specified 2024-04-17 criteria provided, single submitter clinical testing

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